Ataxia Gene Identification by Integrated Genomic Analysis

Ataxias are a group of diseases that result in a lack of coordinated muscle movement. Hereditary ataxias are genetically heterogeneous and it is reported that 40% of suspected genetic ataxias currently have an unknown cause. We used exome sequencing to detect mutations responsible for ataxia. We sequenced, when available, multiple individuals per family to identify family specific mutations and further confirmed segregation of variants using samples from available affected and unaffected family members.]]> Probands had a suspected genetic form of ataxia and had tested negative on commercially available tests for common ataxia mutations. Affected and, in most cases, unaffected relatives of proband were recruited. ]]>